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Q92187

- SIA8D_HUMAN

UniProt

Q92187 - SIA8D_HUMAN

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Protein

CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase

Gene

ST8SIA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.

Pathwayi

GO - Molecular functioni

  1. alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Source: BHF-UCL
  2. sialic acid binding Source: BHF-UCL

GO - Biological processi

  1. axon guidance Source: Reactome
  2. cellular protein modification process Source: ProtInc
  3. ganglioside biosynthetic process Source: BHF-UCL
  4. nervous system development Source: ProtInc
  5. N-glycan processing Source: BHF-UCL
  6. oligosaccharide metabolic process Source: BHF-UCL
  7. protein glycosylation Source: BHF-UCL
  8. sialylation Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_18312. NCAM1 interactions.
REACT_200874. Sialic acid metabolism.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT29. Glycosyltransferase Family 29.

Names & Taxonomyi

Protein namesi
Recommended name:
CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (EC:2.4.99.-)
Alternative name(s):
Alpha-2,8-sialyltransferase 8D
Polysialyltransferase-1
Sialyltransferase 8D
Short name:
SIAT8-D
Sialyltransferase St8Sia IV
Short name:
ST8SiaIV
Gene namesi
Name:ST8SIA4
Synonyms:PST, PST1, SIAT8D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:10871. ST8SIA4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Transmembranei8 – 2013Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini21 – 359339LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of Golgi membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35772.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferasePRO_0000149293Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
Glycosylationi74 – 741N-linked (GlcNAc...)1 Publication
Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi142 ↔ 2921 Publication
Disulfide bondi156 ↔ 3561 Publication
Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92187.
PRIDEiQ92187.

PTM databases

PhosphoSiteiQ92187.

Expressioni

Tissue specificityi

Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes.

Gene expression databases

BgeeiQ92187.
CleanExiHS_ST8SIA4.
ExpressionAtlasiQ92187. baseline and differential.
GenevestigatoriQ92187.

Organism-specific databases

HPAiHPA051126.

Interactioni

Protein-protein interaction databases

BioGridi113636. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ92187.
SMRiQ92187. Positions 123-318.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 29 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG324948.
GeneTreeiENSGT00550000074407.
HOGENOMiHOG000232070.
HOVERGENiHBG056466.
InParanoidiQ92187.
KOiK06614.
OMAiSVRKRWT.
OrthoDBiEOG7VQJD1.
PhylomeDBiQ92187.
TreeFamiTF352820.

Family and domain databases

InterProiIPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view]
PfamiPF00777. Glyco_transf_29. 1 hit.
[Graphical view]
PIRSFiPIRSF005557. Sialyl_trans. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92187-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSIRKRWTI CTISLLLIFY KTKEIARTEE HQETQLIGDG ELSLSRSLVN
60 70 80 90 100
SSDKIIRKAG SSIFQHNVEG WKINSSLVLE IRKNILRFLD AERDVSVVKS
110 120 130 140 150
SFKPGDVIHY VLDRRRTLNI SHDLHSLLPE VSPMKNRRFK TCAVVGNSGI
160 170 180 190 200
LLDSECGKEI DSHNFVIRCN LAPVVEFAAD VGTKSDFITM NPSVVQRAFG
210 220 230 240 250
GFRNESDREK FVHRLSMLND SVLWIPAFMV KGGEKHVEWV NALILKNKLK
260 270 280 290 300
VRTAYPSLRL IHAVRGYWLT NKVPIKRPST GLLMYTLATR FCDEIHLYGF
310 320 330 340 350
WPFPKDLNGK AVKYHYYDDL KYRYFSNASP HRMPLEFKTL NVLHNRGALK

LTTGKCVKQ
Length:359
Mass (Da):41,295
Last modified:February 1, 1997 - v1
Checksum:iC53FFDF658926D61
GO
Isoform 2 (identifier: Q92187-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-359: Missing.

Note: No experimental confirmation available.

Show »
Length:168
Mass (Da):19,260
Checksum:i2B9ED426B1A3C9F2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71R → K.1 Publication
Corresponds to variant rs199768560 [ dbSNP | Ensembl ].
VAR_068976
Natural varianti92 – 921E → G in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036169

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei169 – 359191Missing in isoform 2. 1 PublicationVSP_044867Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41680 mRNA. Translation: AAC41775.1.
AK292872 mRNA. Translation: BAF85561.1.
AC010411 Genomic DNA. No translation available.
AC117530 Genomic DNA. No translation available.
CH471086 Genomic DNA. Translation: EAW49104.1.
CH471086 Genomic DNA. Translation: EAW49105.1.
BC027866 mRNA. Translation: AAH27866.1.
BC053657 mRNA. Translation: AAH53657.1.
CCDSiCCDS4091.1. [Q92187-1]
CCDS47252.1. [Q92187-2]
PIRiI59403.
RefSeqiNP_005659.1. NM_005668.5. [Q92187-1]
NP_778222.1. NM_175052.2. [Q92187-2]
UniGeneiHs.308628.

Genome annotation databases

EnsembliENST00000231461; ENSP00000231461; ENSG00000113532. [Q92187-1]
ENST00000451528; ENSP00000428914; ENSG00000113532. [Q92187-2]
GeneIDi7903.
KEGGihsa:7903.
UCSCiuc003knk.3. human. [Q92187-1]
uc003knl.3. human.

Polymorphism databases

DMDMi2494834.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

ST8Sia IV

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41680 mRNA. Translation: AAC41775.1 .
AK292872 mRNA. Translation: BAF85561.1 .
AC010411 Genomic DNA. No translation available.
AC117530 Genomic DNA. No translation available.
CH471086 Genomic DNA. Translation: EAW49104.1 .
CH471086 Genomic DNA. Translation: EAW49105.1 .
BC027866 mRNA. Translation: AAH27866.1 .
BC053657 mRNA. Translation: AAH53657.1 .
CCDSi CCDS4091.1. [Q92187-1 ]
CCDS47252.1. [Q92187-2 ]
PIRi I59403.
RefSeqi NP_005659.1. NM_005668.5. [Q92187-1 ]
NP_778222.1. NM_175052.2. [Q92187-2 ]
UniGenei Hs.308628.

3D structure databases

ProteinModelPortali Q92187.
SMRi Q92187. Positions 123-318.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113636. 1 interaction.

Protein family/group databases

CAZyi GT29. Glycosyltransferase Family 29.

PTM databases

PhosphoSitei Q92187.

Polymorphism databases

DMDMi 2494834.

Proteomic databases

PaxDbi Q92187.
PRIDEi Q92187.

Protocols and materials databases

DNASUi 7903.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000231461 ; ENSP00000231461 ; ENSG00000113532 . [Q92187-1 ]
ENST00000451528 ; ENSP00000428914 ; ENSG00000113532 . [Q92187-2 ]
GeneIDi 7903.
KEGGi hsa:7903.
UCSCi uc003knk.3. human. [Q92187-1 ]
uc003knl.3. human.

Organism-specific databases

CTDi 7903.
GeneCardsi GC05M100171.
HGNCi HGNC:10871. ST8SIA4.
HPAi HPA051126.
MIMi 602547. gene.
neXtProti NX_Q92187.
PharmGKBi PA35772.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324948.
GeneTreei ENSGT00550000074407.
HOGENOMi HOG000232070.
HOVERGENi HBG056466.
InParanoidi Q92187.
KOi K06614.
OMAi SVRKRWT.
OrthoDBi EOG7VQJD1.
PhylomeDBi Q92187.
TreeFami TF352820.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_18312. NCAM1 interactions.
REACT_200874. Sialic acid metabolism.

Miscellaneous databases

ChiTaRSi ST8SIA4. human.
GeneWikii ST8SIA4.
GenomeRNAii 7903.
NextBioi 30362.
PROi Q92187.
SOURCEi Search...

Gene expression databases

Bgeei Q92187.
CleanExi HS_ST8SIA4.
ExpressionAtlasi Q92187. baseline and differential.
Genevestigatori Q92187.

Family and domain databases

InterProi IPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
[Graphical view ]
Pfami PF00777. Glyco_transf_29. 1 hit.
[Graphical view ]
PIRSFi PIRSF005557. Sialyl_trans. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning of a human polysialyltransferase that forms the polysialylated neural cell adhesion molecule present in embryonic brain."
    Nakayama J., Fukuda M.N., Fredette B., Ranscht B., Fukuda M.
    Proc. Natl. Acad. Sci. U.S.A. 92:7031-7035(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Trachea.
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-7.
    Tissue: Brain and Lung.
  6. "Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity."
    Angata K., Yen T.Y., El-Battari A., Macher B.A., Fukuda M.
    J. Biol. Chem. 276:15369-15377(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BONDS, GLYCOSYLATION AT ASN-74.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-92.

Entry informationi

Entry nameiSIA8D_HUMAN
AccessioniPrimary (citable) accession number: Q92187
Secondary accession number(s): A8KA07
, G3V104, Q8N1F4, Q92693
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: October 29, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3